A haplotype map of the human genome
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Résumé
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.
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La notice
- Revue
- Nature
- Thématique
- RNA and protein synthesis mechanisms
- Domaine
- Biochemistry, Genetics and Molecular Biology
- Établissements canadiens
- —
- Organismes subventionnaires
- National Institute of Biomedical Imaging and BioengineeringNational Institute of Dental and Craniofacial ResearchNational Institute of Environmental Health SciencesNational Institute of Neurological Disorders and StrokeNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Center for Research ResourcesNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesNational Institute of Mental HealthNational Institute on Alcohol Abuse and AlcoholismNational Eye InstituteNational Institute on AgingNational Cancer InstituteW. M. Keck FoundationNational Institute on Deafness and Other Communication DisordersNational Institute on Drug AbuseEngineering and Physical Sciences Research CouncilUniversity of California, San FranciscoNational Institutes of HealthMinistry of Science and Technology of the People's Republic of ChinaNational Natural Science Foundation of ChinaBeijing Normal UniversityUniversity of OxfordChinese Academy of SciencesUniversity Grants CommitteeRIKENInnovation and Technology CommissionNational Human Genome Research InstituteWellcome TrustGenome Canada
- Mots-clés
- International HapMap ProjectHaplotypeLinkage disequilibriumHaplotype estimationGeneticsBiologyHuman genomeSingle-nucleotide polymorphismEvolutionary biologyTag SNPGenomeGenetic variationHuman genetic variationComputational biologyAlleleGenotypeGene
- Résumé présent dans OpenAlex
- oui